Associated Papers
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
Genetic results and clinical outcome of fetuses with cardiac rhabdomyoma including a novel mutation in TSC2 gene.
Gao J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Clinical Implications of Solitary Subependymal Giant Cell Astrocytoma in the Absence of Tuberous Sclerosis Complex: Case Series and Comprehensive Literature Review.
Gallus S et al.
Journal of Pediatric Hematology/oncology, 2025
Transcriptomic and morphologic vascular aberrations underlying FCDIIb etiology.
Fang C et al.
Nature Communications, 2025
New insights into tuberous sclerosis complex: from structure to pathogenesis.
Chen CS et al.
Frontiers in Cell and Developmental Biology, 2025
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V et al.
European Journal of Human Genetics : Ejhg, 2024
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex.
Dufner-Almeida LG et al.
Genes, 2024
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.
Shin HJ et al.
Neurogenetics, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
West HD et al.
Human Mutation, 2023
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing.
Xu Y et al.
Molecular Genetics & Genomic Medicine, 2022
Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.
Huang J et al.
Bmc Pulmonary Medicine, 2022
Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.
Yang XY et al.
Molecular Genetics & Genomic Medicine, 2022
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Klonowska K et al.
The Journal of Clinical Investigation, 2022
A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review.
Han B et al.
Diagnostic Pathology, 2021
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Tian X et al.
Annals of the American Thoracic Society, 2021
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T et al.
Scientific Reports, 2020
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W et al.
Aging, 2020
TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.
He J et al.
Genetic Testing and Molecular Biomarkers, 2020
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
Zhang N et al.
Frontiers in Genetics, 2020
Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL et al.
Annual Review of Genomics and Human Genetics, 2019
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Liu J et al.
Plos One, 2019
Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Prenatal diagnosis of tuberous sclerosis complex using fetal ultrasonography and magnetic resonance imaging and genetic testing.
Wang CC et al.
Taiwanese Journal of Obstetrics & Gynecology, 2018
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S et al.
Scientific Reports, 2017
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.
Gellert P et al.
Nature Communications, 2016
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Kwiatkowski DJ et al.
European Journal of Human Genetics : Ejhg, 2015
Fetal brain mTOR signaling activation in tuberous sclerosis complex.
Tsai V et al.
Cerebral Cortex (new York, N.y. : 1991), 2014
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
Fetal brain lesions in tuberous sclerosis complex: TORC1 activation and inflammation.
Prabowo AS et al.
Brain Pathology (zurich, Switzerland), 2013
Evidence for population variation in TSC1 and TSC2 gene expression.
Jentarra GM et al.
Bmc Medical Genetics, 2011
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
Le Caignec C et al.
European Journal of Human Genetics : Ejhg, 2009
TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.
Muzykewicz DA et al.
Journal of Medical Genetics, 2009
Recent advances in neurobiology of Tuberous Sclerosis Complex.
Napolioni V et al.
Brain & Development, 2009
Genotype-phenotype correlations in tuberous sclerosis: who and how to treat.
Goh S et al.
Annals of Neurology, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Jansen AC et al.
Annals of Neurology, 2006
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
Nellist M et al.
Biochemical and Biophysical Research Communications, 2005
Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.
Au KS et al.
Journal of Child Neurology, 2004
A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
Roberts PS et al.
Annals of Human Genetics, 2003
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.
Yamamoto T et al.
Brain & Development, 2002
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.
Nellist M et al.
Human Molecular Genetics, 2001
Cells derived from tuberous sclerosis show a prolonged S phase of the cell cycle and increased apoptosis.
Wataya-Kaneda M et al.
Archives of Dermatological Research, 2001
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC et al.
American Journal of Human Genetics, 1999